GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
111	Deficiency of acetyl-CoA acetyltransferase Autosomal recessive	Metabolic disorders	ACAT1 acetyl-CoA acetyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
112	Deficiency of aromatic-L-amino-acid decarboxylase Autosomal recessive	Metabolic disorders	DDC dopa decarboxylase	Reports Updated as of Feb 01, 2025	PubMed
113	Deficiency of butyrylcholinesterase Autosomal recessive	Metabolic disorders	BCHE butyrylcholinesterase	Reports Updated as of Feb 20, 2024	PubMed
114	Deficiency of ferroxidase Autosomal recessive	Metabolic disorders	CP ceruloplasmin	Reports Updated as of Mar 09, 2023	PubMed
115	Deficiency of galactokinase Autosomal recessive	Metabolic disorders	GALK1 galactokinase 1	Reports Updated as of Sep 05, 2023	PubMed
116	Deficiency of guanidinoacetate methyltransferase Autosomal recessive	Metabolic disorders	GAMT guanidinoacetate N-methyltransferase	Reports Updated as of Feb 20, 2024	PubMed
117	Deficiency of hyaluronoglucosaminidase Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	HYAL1 hyaluronidase 1	Reports Updated as of Feb 01, 2025	PubMed
118	Dentinogenesis imperfecta type 2 Autosomal dominant	Oral disorders	DSPP dentin sialophosphoprotein	Reports Updated as of Sep 15, 2022	PubMed
119	Desmoid disease	Cancer disorders	APC APC regulator of WNT signaling pathway	Reports Updated as of Dec 29, 2023	PubMed
120	Diastrophic dysplasia Autosomal recessive	Bone disorders	SLC26A2 solute carrier family 26 member 2	Reports Updated as of Sep 15, 2022	PubMed

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